title: Identification of the multiple beta-thalassemia mutations by denaturing gradient gel electrophoresis.
abstract: We used denaturing gradient gel electrophoresis to detect the beta-thalassemia mutations in the Chinese population. By amplifying the beta-globin gene in four separate fragments and electrophoresing the amplified DNA in two gels, we were able to distinguish all the 12 known mutations on the basis of the mobility of the homoduplexes and heteroduplexes. We conclude that denaturing gradient gel electrophoresis offers a nonradioactive means of detecting multiple mutations in genetic disorders.
authors.affiliation: Department of Laboratory Medicine, University of California, San Francisco 94143-0724.
authors.forename: S P
authors.initials: SP
authors.lastname: Cai
authors.forename: Y W
authors.initials: YW
authors.lastname: Kan
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000032:analysis*; D004586:Electrophoresis; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009691:Nucleic Acid Denaturation; D016133:Polymerase Chain Reaction; D013789:Thalassemia / Q000235:genetics*
chemical_list: D004247:DNA